Primary grafting with autologous cranial particulate bone prevents osseous defects following fronto-orbital advancement.

Background: Approximately 20 percent of patients require cranioplasty for defects after fronto-orbital advancement. The authors hypothesized that corticocancellous cranial particulate bone placed over exposed dura at the time of fronto-orbital advancement would decrease the frequency of incomplete ossification.

Methods: The authors retrospectively analyzed consecutive children who underwent fronto-orbital advancement for craniosynostosis between 1988 and 2006.

Multifocal rapidly involuting congenital hemangioma: a link to chorangioma.

Common infantile hemangioma is intriguing because of its variable presentation, rapid postnatal growth and slow regression in childhood. Interest in this tumor has increased with the recognition that it can be associated with structural anomalies in the craniofacial and ventral-caudal regions. The phenotype has expanded by characterization of rare vascular tumors that arise in the fetus and manifest at birth as rapidly involuting congenital hemangioma (RICH) or non-involuting congenital hemangioma (NICH).

Reticular infantile hemangioma of the limb can be associated with ventral-caudal anomalies, refractory ulceration, and cardiac overload.

We describe six patients with an uncommon variant of infantile hemangioma that we have termed reticular, occurring in the extremity, which were associated with intractable ulceration, anogenito-urinary-sacral anomalies, and sometimes cardiac overload. The extreme end of the spectrum is exemplified by a male neonate who presented with a stained, enlarged, pulsatile lower extremity, and cardiac failure. He also had hepatic hemangiomas and ambiguous genitalia.

A case of Proteus syndrome with lateral embryonal vein and frontal intraosseous lipoma.

A patient with Proteus syndrome is reported with heretofore unreported features including a frontal intraosseous lipoma and a lateral embryonal leg vein (Servelle) associated with a venous malformation. These associated anomalies further broaden the phenotypic variability of Proteus syndrome.

Repair of transverse facial cleft in hemifacial microsomia: long-term anthropometric evaluation of commissural symmetry.

Background: Cleft of the oral commissure is an uncommon malformation that results from incomplete mesenchymal merging of the mandibular and maxillary prominences of the first pharyngeal arch. Many operative techniques have been proposed to repair this cutaneous and muscular defect. Most authors recommend cutaneous closure by Z-plasty or W-plasty, but these geometric techniques cause additional cutaneous scarring; furthermore, the risk of commissural migration after repair of a transverse facial cleft is poorly documented.

CRISPLD2: a novel NSCLP candidate gene.

Non-syndromic cleft lip with or without cleft palate (NSCLP) results from the complex interaction between genes and environmental factors. Candidate gene analysis and genome scans have been employed to identify the genes contributing to NSCLP. In this study, we evaluated the 16q24.

Frequency of Le Fort I osteotomy after repaired cleft lip and palate or cleft palate.

Objective: Diminished maxillary growth is a consequence of labiopalatal repair, and many patients with cleft lip and palate require Le Fort I advancement. The goal of this study was to determine the frequency of maxillary hypoplasia as measured by need for Le Fort I.

Subjects: Retrospective cohort study of males born before 1987 and females before 1989.

Vascular anomalies: classification, diagnosis, and natural history.

In the past, patients with vascular anomalies went from one physician to another. No one seemed to understand the condition, and sometimes the child was harmed by the wrong treatment. Now interdisciplinary vascular anomalies centers are organizing.

Astigmatism in unilateral coronal synostosis: incidence and laterality.

Purpose: Unilateral coronal synostosis alters orbital development and can be associated with strabismus, oblique muscle dysfunction, astigmatism, and amblyopia. While the ocular effects are most dramatic on the side of the fusion, the shape of the contralateral orbit is also abnormal and the effect of these changes on bilateral visual development has not been fully described. The purpose of this study was to analyze the incidence and laterality of astigmatism in children with unilateral coronal synostosis.

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

Background: Mutations in the PTEN gene cause two disorders that predispose to cancer, Bannayan-Riley-Ruvalcaba and Cowden syndromes. Some patients with a PTEN mutation have only macrocephaly and autism, but they may still be at risk for neoplasms. Vascular anomalies occur in patients with a PTEN mutation, but they have not been systematically studied or precisely defined.

Schimmelpenning syndrome: an association with vascular anomalies.

Objective: Schimmelpenning syndrome is a rare neurocutaneous disorder characterized by craniofacial nevus sebaceus in association with seizures, developmental delay, and ocular or skeletal pathology. Vascular anomalies also have been described in this condition, and some authors have suggested that the two entities are associated. The purpose of this study was to determine the prevalence of vascular anomalies in Schimmelpenning syndrome.

Intracranial vascular anomalies in patients with periorbital lymphatic and lymphaticovenous malformations.

Background And Purpose: The purpose of this study was to determine the nature, incidence, and radiologic appearance of intracranial vascular anomalies that occur in association with periorbital lymphatic malformation (LM) and lymphaticovenous malformation (LVM).

Materials And Methods: We retrospectively reviewed clinical records and imaging studies of 33 patients ranging in age from the neonatal period to 39 years (mean age, 5.1 years; median age, 1.

Zygomaticotemporal synostosis: a rare cause of progressive facial asymmetry.

Cranial synostosis is relatively common; however, premature closure of a facial suture is remarkably rare. We describe an adolescent male with zygomaticotemporal synostosis that manifested as progressive midfacial and orbital asymmetry, angulation of the cranial base, and nasal deviation. To our knowledge, this is the first description of this anomaly in the literature.

Hepatic hemangiomas: subtype classification and development of a clinical practice algorithm and registry.

Purpose: Hepatic hemangiomas, though histologically benign, may be associated with significant morbidity and mortality in afflicted infants. The literature presents much confusion regarding the natural history and treatment options for hepatic hemangiomas. Clinical manifestations range from asymptomatic self-limiting lesions to congestive heart failure associated with high-volume vascular shunting to fulminant hepatic failure with hypothyroidism, abdominal compartment syndrome, and death.

Radiofrequency ablation of microcystic lymphatic malformation in the oral cavity.

Objective: To determine the efficacy and safety of radiofrequency (RF) ablation of vesicles and the resulting symptomatic control of microcystic lymphatic malformation (LM) in the oral cavity.

Design: An institutional review board-approved retrospective study with follow-up telephone interview.

Setting: Tertiary pediatric medical center.

Hypopituitarism in PHACES Association.

The association consisting of posterior fossal malformations, cervicofacial, hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and sternal clefting, or supraumbilical raphe, refers to the occurrence of congenital structural and vascular anomalies in the presence of a facial hemangioma. We report a patient with this association, growth retardation, and developmental delay who was found to have a partially empty sella turcica, central hypothyroidism, and growth hormone deficiency. Endocrinologic evaluation should be considered in any infant with this association.

Prevention of temporal depression that follows fronto-orbital advancement for craniosynostosis.

Contour abnormalities presenting after fronto-orbital advancement for craniosynostosis are common. Often there is bilateral temporal depression, the result of leaving a coronal bony gap posterior to the advanced segments. The authors present techniques to prevent this temporal depression by utilizing full-thickness bone grafts for structural support in the inferior coronal defects, and cortico-cancellous graft in the remaining superior coronal and parietal donor defects.

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

Mutations in the vascular endothelial growth factor receptor 3 gene, VEGFR3/FLT4, have been identified in a subset of families with hereditary lymphedema type I or Milroy disease (MIM 153100). Individuals carrying a VEGFR3 mutation exhibit congenital edema of the lower limbs, usually bilaterally and below the knees, sometimes associated with cellulitis, prominent veins, papillomatosis, upturned toenails, and hydrocele. In this study, we report the first de novo VEGFR3 mutation in a patient with sporadic congenital lymphedema.

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

Apert syndrome was diagnosed in a newborn with typical facial and digital features whose only detected prenatal abnormality had been agenesis of the corpus callosum. This prompted a review of the central nervous system findings in all cases of Apert syndrome treated at the Craniofacial Center Boston Children's Hospital between 1978 and 2004. Two of 30 patients with Apert syndrome had prenatal identification of mild dilatation of the lateral cerebral ventricles and complete agenesis of the corpus callosum (ACC) documented with both ultrasound and MRI.

Endothelial progenitor cells from infantile hemangioma and umbilical cord blood display unique cellular responses to endostatin.

Infantile hemangiomas are composed of endothelial cells (ECs), endothelial progenitor cells (EPCs), as well as perivascular and hematopoietic cells. Our hypothesis is that hemangioma-derived EPCs (HemEPCs) differentiate into the mature ECs that comprise the major compartment of the tumor. To test this, we isolated EPCs (CD133(+)/Ulex europeus- I(+)) and mature ECs (CD133(-)/Ulex europeus-I(+)) from proliferating hemangiomas and used a previously described property of hemangioma-derived ECs (HemECs), enhanced migratory activity in response to the angiogenesis inhibitor endostatin, to determine if HemEPCs share this abnormal behavior.

Verrucous hemangioma revisited.

We analyzed the clinical and histopathologic characteristics of verrucous hemangioma, compared these findings to hyperkeratotic mimickers such as capillary-lymphatic malformation or capillary-venous malformation and angiokeratoma circumscriptum, and reconsidered whether the term verrucous hemangioma is appropriate in the current nosology of vascular anomalies. Fourteen similar-appearing localized hyperkeratotic vascular lesions were identified by one surgeon as either angiokeratoma, angiokeratoma circumscriptum, capillary-venous malformation, capillary-lymphatic malformation, or verrucous hemangioma. All lesions were located on an extremity, except for one lesion on the trunk, and were single or grouped and 2.